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伴基底节及小脑萎缩的髓鞘发育不良一例 被引量:1

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摘要 患儿女,2岁1月龄,因"尚不能独坐"于2015年5月收入首都儿科研究所附属儿童医院神经内科.患儿2岁1月龄仍竖头不稳、翻身不全、不能独坐、独站,智力、运动发育明显落后于同龄儿,伴双眼水平震颤,无抽搐发作.自出生后无喂养困难,但体重增长不满意.患儿为第2胎第2产,母亲孕产史正常.患儿父母健康,否认近亲结婚,姐姐3岁半,身体健康.否认相关家族史及遗传病史.
出处 《中华儿科杂志》 CAS CSCD 北大核心 2016年第10期776-777,共2页 Chinese Journal of Pediatrics
基金 国家科技支撑计划(2012BA103802) 首都临床特色研究(Z131107002213159) 北京市卫生系统高层次卫生技术人才培养计划(2015.3-084)
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  • 1van der Knaap MS, Naidu S, Pouwels PJ, et al. New syndromecharacterized by hypomyelination with atrophy of the basal gangliaand cerebellum [J] . AJNR Am J Neuroradiol,2002,23 ( 9 ):1466-1474.
  • 2Simons C,Wolf NI,Mcneil N, et al. A de novo mutation in thep-tubulin gene TUBB4A, results in the leukoencephalopathyhypomyelination with atrophy of the basal ganglia and cerebellum[J]. AmJ Hum Genet,2013, 92(5) :767-773. DOI: 10. 1016/j. ajhg. 2013.03.018.
  • 3Hamilton EM,Polder E,Vanderver A,et al. Hypomyelinationwith atrophy of the basal ganglia and cerebellum : furtherdelineation of the phenotype and genotype-phenotype correlation[J]. Brain, 2014,137(7) : 1921-1930. DOI: 10. 1093/brain/awul 10.
  • 4Mercimekmahmutoglu S, Stockleripsiroglu S. Cerebral folatedeficiency and folinic acid treatment in hypomyelination withatrophy of the basal ganglia and cerebellum ( H-ABC ) syndrome[J]. Tohoku J Exp Med, 2007,211 (1) :95-96.
  • 5Wakusawa K, Uematsu M, Tsuchiya S, et al. The cerebrospinalfluid level of 5 -methylterahydrofolate in a Japanese boy withhypomyelination with atrophy of the basal ganglia and cerebellum[J]. Tohoku J Exp Med, 2008,213(4) :373.
  • 6Wakusawa K, Haginoya K, Kitamura T, et al. Effective treatmentwith levodopa and carbidopa for hypomyelination with atrophy ofthe basal ganglia and cerebellum[J]. Tohoku J Exp Med, 2006 ,209(2) :163-167.
  • 7Iwabuchi K,Nakazawa Y,Akai J,et al. Autosomal recessivehereditary cortical cerebellar atrophy with striatal degeneration-two siblings showing choreoathetoid movement, ataxia, dementia,and amenorrhea[J]. No To Shinkei, 1994,46(6) ;563-571.
  • 8Tonduti D,Aiello C, Renaldo F,et al. TUBB4A-relatedhypomyelinating leukodystrophy : New insights from a series of 12patients [J] . Eur J Paediatri Neurol, 2015 , 20 ( 2 ) : 323-330.DOI: 10. 1016/j. ejpn. 2015. 11.006.

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